Article
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
American journal of human genetics - 7 Dec 2012
Oz-Levi Danit, Ben-Zeev Bruria, Ruzzo Elizabeth K, Hitomi Yuki, Gelman Amir, Pelak Kimberly, Anikster Yair, Reznik-Wolf Haike, Bar-Joseph Ifat, Olender Tsviya, Alkelai Anna, Weiss Meira, Ben-Asher Edna, Ge Dongliang, Shianna Kevin V, Elazar Zvulun, Goldstein David B, Pras Elon, Lancet Doron
Abstract excerpt
We studied five individuals from three Jewish Bukharian families affected by an apparently autosomal-recessive form of hereditary spastic paraparesis accompanied by severe intellectual disability, fluctuating central hypoventilation, gastresophageal reflux disease, wake apnea, areflexia, and unique dysmorphic features. Exome sequencing identified one homozygous variant shared among all affected individuals and...
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